"GeneDx"[submitter] AND "LOC126862217"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 1285898	NM_001150.3(ANPEP):c.963G>A (p.Thr321=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1220916	NM_001150.3(ANPEP):c.954G>T (p.Leu318=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1279989	NM_001150.3(ANPEP):c.932C>T (p.Ala311Val)	ANPEP, LOC126862217 (A311V)	Single nucleotide variant (missense variant)	not provided	GBenign

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